p.Gly47 Arg54del variant of AIP (AH receptor-interacting protein)
p.Gly47 Arg54del in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly47 Arg54del variant details
- rs267606537
- gnomAD 11-67487043-AGGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 18.50
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: AIP Familial Isolated Pituitary Adenomas. (PMID 22720333)